Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02104:Pabpc2'

279869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Pabpc2

Ensembl Gene

ENSMUSG00000051732

Gene Name

poly(A) binding protein, cytoplasmic 2

Synonyms

Pabp2

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

IGL02104

Quality Score

Status

Chromosome

Chromosomal Location

39773497-39776082 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 39774883 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 400 (Q400H)

Ref Sequence

ENSEMBL: ENSMUSP00000066639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000063219]

AlphaFold

Q62029

Predicted Effect

possibly damaging
Transcript: ENSMUST00000063219
AA Change: Q400H

PolyPhen 2 Score 0.647 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000066639
Gene: ENSMUSG00000051732
AA Change: Q400H

Domain	Start	End	E-Value	Type
RRM	12	85	1.64e-19	SMART
RRM	100	171	7.57e-24	SMART
RRM	192	264	5.23e-27	SMART
RRM	295	366	3.53e-24	SMART
low complexity region	398	413	N/A	INTRINSIC
low complexity region	490	500	N/A	INTRINSIC
PolyA	546	609	1.69e-27	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933440M02Rik	T	C	7: 125,331,542		noncoding transcript	Het
Abcb5	T	A	12: 118,940,680	Q125L	probably damaging	Het
Acap3	G	A	4: 155,905,085	R662H	probably damaging	Het
Aox4	T	A	1: 58,236,657		probably benign	Het
Aqp6	T	C	15: 99,604,278	S285P	probably benign	Het
Arhgef5	A	T	6: 43,272,411	Q32L	probably damaging	Het
B3gnt6	G	T	7: 98,194,101	D217E	probably damaging	Het
Chd6	T	C	2: 160,977,512	I1338V	probably benign	Het
Clic6	A	G	16: 92,498,479	E9G	possibly damaging	Het
Col11a1	T	A	3: 114,181,397		probably null	Het
Dcdc2b	T	A	4: 129,611,074	D88V	probably benign	Het
Dis3l	T	A	9: 64,310,329	K791N	possibly damaging	Het
Dmxl2	A	T	9: 54,404,015	Y1008*	probably null	Het
Dnah11	A	G	12: 118,192,390	V175A	probably benign	Het
Efl1	A	G	7: 82,658,055		probably null	Het
Fam117b	C	T	1: 59,949,119	T219I	probably benign	Het
Fgf21	T	A	7: 45,615,224	Q28L	probably benign	Het
Folh1	T	C	7: 86,744,430	Q391R	possibly damaging	Het
Gars	A	G	6: 55,077,697	D663G	probably damaging	Het
Lats2	A	G	14: 57,734,012	F69L	probably damaging	Het
Lrp2	C	T	2: 69,510,418	V1038M	probably damaging	Het
Map3k1	A	T	13: 111,756,243	V826E	probably damaging	Het
Mapkap1	T	A	2: 34,623,470	Y497*	probably null	Het
Mast3	T	C	8: 70,787,906	I296V	possibly damaging	Het
Mon1a	T	G	9: 107,901,615	L346R	probably damaging	Het
Mphosph8	T	C	14: 56,674,579	L353S	probably benign	Het
Muc5ac	T	C	7: 141,811,078	Y2634H	probably damaging	Het
Mylk	A	G	16: 34,815,435	T9A	probably benign	Het
Olfr1031	G	T	2: 85,992,386	D190Y	probably damaging	Het
Olfr1440	T	A	19: 12,394,899	V212D	probably damaging	Het
Olfr1484	T	A	19: 13,585,604	M57K	probably damaging	Het
Olfr418	T	C	1: 173,271,036	V287A	probably damaging	Het
Olfr543	C	A	7: 102,477,337	V178F	probably damaging	Het
Olfr761	A	C	17: 37,952,291	H244Q	probably damaging	Het
Olfr843	A	T	9: 19,248,870	H176Q	probably benign	Het
Pigg	A	G	5: 108,342,097	Y856C	probably damaging	Het
Plekhn1	A	T	4: 156,222,408	V508E	probably benign	Het
Pom121l2	C	A	13: 21,982,275	H239N	possibly damaging	Het
Prdm2	A	G	4: 143,133,427	S1098P	probably benign	Het
Rnf212	A	G	5: 108,747,440	I41T	possibly damaging	Het
Rngtt	A	G	4: 33,320,517		probably null	Het
Rpn2	C	T	2: 157,321,827	T613M	probably damaging	Het
Scd4	G	T	19: 44,344,747	V304F	possibly damaging	Het
Sez6l	A	G	5: 112,426,764		probably benign	Het
Shroom3	A	G	5: 92,940,389	R158G	probably benign	Het
Stil	T	C	4: 115,041,482	L1103P	probably damaging	Het
Tanc2	T	C	11: 105,780,133		probably benign	Het
Tmc1	C	T	19: 20,832,454	D255N	probably benign	Het
Trank1	C	A	9: 111,390,712	D2172E	possibly damaging	Het
Tyro3	G	A	2: 119,813,200	R718H	probably damaging	Het
Vamp2	C	A	11: 69,090,657	F114L	probably benign	Het
Wdr66	T	A	5: 123,302,698	L1106*	probably null	Het

Other mutations in Pabpc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Pabpc2	APN	18	39775337	missense	possibly damaging	0.78
IGL01295:Pabpc2	APN	18	39774029	missense	probably damaging	1.00
IGL02061:Pabpc2	APN	18	39774993	missense	probably benign	0.01
IGL02513:Pabpc2	APN	18	39775140	missense	probably benign	0.08
R0201:Pabpc2	UTSW	18	39775307	missense	probably benign	0.01
R0383:Pabpc2	UTSW	18	39775395	missense	probably damaging	0.99
R0616:Pabpc2	UTSW	18	39773739	missense	possibly damaging	0.94
R0727:Pabpc2	UTSW	18	39775134	missense	probably benign	0.00
R1597:Pabpc2	UTSW	18	39773900	missense	probably damaging	1.00
R1722:Pabpc2	UTSW	18	39775116	missense	probably benign	0.08
R1818:Pabpc2	UTSW	18	39774110	missense	probably damaging	1.00
R2230:Pabpc2	UTSW	18	39775070	missense	probably benign	0.00
R3087:Pabpc2	UTSW	18	39774266	missense	probably benign	0.02
R4080:Pabpc2	UTSW	18	39775530	missense	possibly damaging	0.86
R4332:Pabpc2	UTSW	18	39775340	missense	probably benign	0.05
R4386:Pabpc2	UTSW	18	39775185	missense	probably benign	0.00
R4445:Pabpc2	UTSW	18	39774200	missense	probably damaging	1.00
R4718:Pabpc2	UTSW	18	39774503	missense	probably benign
R4744:Pabpc2	UTSW	18	39774828	missense	probably benign	0.07
R4748:Pabpc2	UTSW	18	39774269	nonsense	probably null
R5085:Pabpc2	UTSW	18	39774582	missense	probably damaging	1.00
R5113:Pabpc2	UTSW	18	39775383	missense	probably benign	0.16
R5994:Pabpc2	UTSW	18	39773894	missense	probably benign	0.18
R6216:Pabpc2	UTSW	18	39774719	missense	probably damaging	1.00
R6239:Pabpc2	UTSW	18	39773838	missense	probably damaging	1.00
R6355:Pabpc2	UTSW	18	39774392	missense	probably damaging	0.97
R7221:Pabpc2	UTSW	18	39773910	missense	possibly damaging	0.52
R7738:Pabpc2	UTSW	18	39774266	missense	possibly damaging	0.78
R7767:Pabpc2	UTSW	18	39774554	missense	possibly damaging	0.66
R8059:Pabpc2	UTSW	18	39774822	missense	probably benign	0.33
R8190:Pabpc2	UTSW	18	39775467	missense	probably benign	0.01
R8528:Pabpc2	UTSW	18	39775386	missense	probably benign	0.00
R8905:Pabpc2	UTSW	18	39774651	missense	probably benign	0.30
R9617:Pabpc2	UTSW	18	39774549	missense	probably benign
X0024:Pabpc2	UTSW	18	39775397	nonsense	probably null

Posted On

2015-04-16